Variant report

Variant	rs73215562
Chromosome Location	chr21:40412102-40412103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40410621..40413167-chr21:40413752..40416071,2	K562	blood:
2	chr21:40404423..40408431-chr21:40409590..40413874,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17231059	1.00[ASN][1000 genomes]
rs2836885	1.00[ASN][1000 genomes]
rs2836939	1.00[ASN][1000 genomes]
rs34160989	1.00[ASN][1000 genomes]
rs34304022	1.00[ASN][1000 genomes]
rs73215563	1.00[ASN][1000 genomes]
rs73222852	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40402000-40412800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr21:40402400-40413400	Weak transcription	Psoas Muscle	Psoas
3	chr21:40402800-40413400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40406400-40412400	Weak transcription	Thymus	Thymus
5	chr21:40406400-40412600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:40406400-40413800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:40406600-40412200	Weak transcription	Right Atrium	heart
8	chr21:40406800-40412200	Weak transcription	Fetal Heart	heart
9	chr21:40409600-40412200	Weak transcription	Fetal Thymus	thymus
10	chr21:40409600-40412400	Enhancers	HUVEC	blood vessel
11	chr21:40410000-40413800	Weak transcription	Lung	lung
12	chr21:40410200-40412600	Weak transcription	Placenta	Placenta
13	chr21:40410200-40413600	Weak transcription	Spleen	Spleen
14	chr21:40410200-40413800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr21:40410200-40413800	Weak transcription	Right Ventricle	heart
16	chr21:40410400-40412200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:40410400-40418400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:40410600-40419800	Weak transcription	HepG2	liver
19	chr21:40411000-40412400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr21:40411200-40412200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:40411200-40413000	Enhancers	Adipose Nuclei	Adipose
22	chr21:40411200-40413800	Enhancers	Primary T cells from cord blood	blood
23	chr21:40411200-40414000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:40411400-40413000	Enhancers	Fetal Lung	lung
25	chr21:40411400-40413600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr21:40411400-40414000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr21:40411400-40415000	Enhancers	Fetal Muscle Leg	muscle
28	chr21:40411800-40416600	Weak transcription	Liver	Liver
29	chr21:40412000-40413800	Enhancers	Primary hematopoietic stem cells	blood
30	chr21:40412000-40414200	Enhancers	Left Ventricle	heart

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